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    ABCB7 サマリー & タンパク質情報

    ABCB7 背景

    サブユニット構造: Homodimer or heterodimer. {ECO:0000305}.
    細胞内位置: Mitochondrion inner membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000255|PROSITE-ProRule:PRU00441}.
    疾患関連性: DISEASE: Anemia, sideroblastic, spinocerebellar ataxia (ASAT) [MIM:301310]: A X-linked recessive disorder characterized by an infantile to early childhood onset of non-progressive cerebellar ataxia and mild anemia, with hypochromia and microcytosis. {ECO:0000269|PubMed:10196363, ECO:0000269|PubMed:11050011, ECO:0000269|PubMed:11843825, ECO:0000269|PubMed:22398176}. Note=The disease is caused by mutations affecting the gene represented in this entry.
    シーケンスの類似性: Belongs to the ABC transporter superfamily. ABCB family. Heavy Metal importer (TC 3.A.1.210) subfamily. {ECO:0000305}.; Contains 1 ABC transmembrane type-1 domain. {ECO:0000255|PROSITE-ProRule:PRU00441}.; Contains 1 ABC transporter domain. {ECO:0000255|PROSITE-ProRule:PRU00434}.
    General information above from UniProt

    ABCB7 代替名

    ABC7,ASAT,Atm1p,EST140535, [homo-sapiens]
    Abc7,AA517758,AU019072, [mus-musculus]

    ABCB7 関連研究